Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822134 | SCV000962923 | pathogenic | Autosomal recessive early-onset Parkinson disease 6 | 2023-03-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 664114). This variant is also known as c.367delC (p.G91GfsX105). This premature translational stop signal has been observed in individual(s) with autosomal dominant Parkinson disease and/or autosomal recessive Parkinson disease (PMID: 24677602). This variant is present in population databases (rs755000580, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Cys92Alafs*15) in the PINK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PINK1 are known to be pathogenic (PMID: 15087508, 15349870). |